hrp0086lbp7 | (1) | ESPE2016

Loss of Functional Osteoprotegerin: More than a Skeletal Problem

Grasemann Corinna , Unger Nicole , Hovel Matthias , Arweiler-Harbeck Diana , Lausch Ekkehart , Meissner Thomas , Hauffa Berthold P. , Shaw Nick

Background: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.Objective and hypotheses: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carrie...